CDH23

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Cadherin-related 23
Protein CDH23 PDB 2KBR.png
Rendering based on PDB 2KBR.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CDH23 ; CDHR23; USH1D
External IDs OMIM605516 MGI1890219 HomoloGene11142 GeneCards: CDH23 Gene
RNA expression pattern
PBB GE CDH23 gnf1h00396 at tn.png
PBB GE CDH23 gnf1h01163 s at tn.png
PBB GE CDH23 gnf1h08187 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 64072 22295
Ensembl ENSG00000107736 ENSMUSG00000012819
UniProt Q9H251 Q99PF4
RefSeq (mRNA) NM_001171930 NM_001252635
RefSeq (protein) NP_001165401 NP_001239564
Location (UCSC) Chr 10:
73.16 – 73.58 Mb
Chr 10:
60.3 – 60.7 Mb
PubMed search [1] [2]

Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.[1][2][3]

Function[edit]

This gene is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the protein is thought to be involved in stereocilia organization and hair bundle formation. Specifically, it is thought to interact with protocadherin 15 to form tip-link filaments.[4]

Clinical significance[edit]

The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this novel cadherin-like gene.[3][5]

Interactions[edit]

CDH23 has been shown to interact with USH1C.[6][7]

References[edit]

  1. ^ Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C (2001). "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D". Nature Genetics 27 (1): 108–12. doi:10.1038/83667. PMID 11138009. 
  2. ^ Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001). "Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23". The American Journal of Human Genetics 68 (1): 26–37. doi:10.1086/316954. PMC 1234923. PMID 11090341. 
  3. ^ a b EntrezGene 64072
  4. ^ Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B (2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature 449 (7158): 87–91. doi:10.1038/nature06091. PMID 17805295. 
  5. ^ Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK (2014). "Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing". BMC Medical Genetics 15 (1): 46. doi:10.1186/1471-2350-15-46. PMC 4036425. PMID 24767429. 
  6. ^ Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (2002). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". The EMBO Journal 21 (24): 6689–99. doi:10.1093/emboj/cdf689. PMC 139109. PMID 12485990. 
  7. ^ Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences 99: 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180. 


Further reading[edit]

  • McHugh RK, Friedman RA (2006). "Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum". The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology 288A: 370–81. doi:10.1002/ar.a.20297. PMID 16550584. 
  • Marres HA, Cremers CW (1989). "Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers". Archives of otolaryngology--head & neck surgery 115 (5): 591–5. PMID 2706105. 
  • Chaib H, Place C, Salem N, Dodé C, Chardenoux S, Weissenbach J, el Zir E, Loiselet J, Petit C (1996). "Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22". Human Molecular Genetics 5 (7): 1061–4. doi:10.1093/hmg/5.7.1061. PMID 8817348. 
  • Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
  • Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ (1996). "Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10". Human Molecular Genetics 5 (10): 1689–92. doi:10.1093/hmg/5.10.1689. PMID 8894709. 
  • Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K (2001). "Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D". Nature Genetics 27 (1): 103–7. doi:10.1038/83660. PMID 11138008. 
  • Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (2001). "Prediction of the Coding Sequences of Unidentified Human Genes. XX. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro". DNA Research 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906. 
  • Wilson SM, Householder DB, Coppola V, Tessarollo L, Fritzsch B, Lee EC, Goss D, Carlson GA, Copeland NG, Jenkins NA (2001). "Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice". Genomics 74 (2): 228–33. doi:10.1006/geno.2001.6554. PMID 11386759. 
  • Nakajima D, Nakayama M, Kikuno R, Hirosawa M, Nagase T, Ohara O (2001). "Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs". Molecular Brain Research 94 (1-2): 85–95. doi:10.1016/S0169-328X(01)00218-2. PMID 11597768. 
  • von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A (2002). "Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D". Human Mutation 19 (3): 268–73. doi:10.1002/humu.10049. PMID 11857743. 
  • Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ (2002). "CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness". The American Journal of Human Genetics 71: 262–75. doi:10.1086/341558. PMID 12075507. 
  • Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences 99: 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180. 
  • de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H (February 2003). "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family". Hum. Genet. 112 (2): 156–63. doi:10.1007/s00439-002-0833-0. PMID 12522556. 
  • Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (2003). "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin". Human Molecular Genetics 12 (5): 463–71. doi:10.1093/hmg/ddg051. PMID 12588794.